Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 4,604,698 C→A A186E (GCA→GAA)  bglJ → bgl operon transcriptional activator

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA4,604,6980CA98.0% 161.0 / NA 51A186E (GCA→GAA) bglJbgl operon transcriptional activator
Reads supporting (aligned to +/- strand):  ref base C (1/0);  new base A (27/23);  total (28/23)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.97e-01

GACCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGG‑AGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTTT  >  NC_000913_3_hsa_tpiA/4604556‑4604838
                                                                                                                                               |                                                                                                                                            
aaccgacTAAACAATCAATGCTAAATTAACCAAAGCCGAACGTTAAGCCCGACGG‑AGAGAGAAATATTGCGCGTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGACCAGCTTAAACGCAATATCAAAACGATCCGTGAACATaa                                                                                                                                        <  2:150980/148‑1 (MQ=255)
 accgacTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGG‑AGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACGCAAATTGCCGAGCAGCTTAAACGCAATATCAAAGCGATCCGTGAACATaaa                                                                                                                                       >  1:54136/1‑149 (MQ=255)
  ccgacTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGG‑AGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAAt                                                                                                                                      >  1:708500/1‑149 (MQ=255)
   cgacTGAACAAGAAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGG‑AGAGAGAAATATTGCGCTTTAGGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAAtt                                                                                                                                     <  1:88801/149‑1 (MQ=255)
       tGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGG‑AGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAAt                                                                                                                                 >  2:355633/1‑149 (MQ=255)
         aaCAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGG‑AGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCCATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAAtgt                                                                                                                               <  2:624410/149‑1 (MQ=255)
         aaCAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGG‑AGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAAtgt                                                                                                                               >  1:40581/1‑149 (MQ=255)
          aCAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGG‑AGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCCTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAAtgtg                                                                                                                              >  2:239494/1‑149 (MQ=255)
           cAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGG‑AGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAGtgtgg                                                                                                                             >  1:432383/1‑148 (MQ=255)
            aaTCAGTGGTACATTAACCAAAGCCGGAAGTTACGCTC‑ACGGAAGGGAGAAATATTTCGCTGGATGTCGCGTGGCTACTCAATGACACAAATTTCCGATCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGAt                                                                                                                            >  2:790706/1‑149 (MQ=255)
              tCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGG‑AGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGt                                                                                                                          >  2:74930/1‑149 (MQ=255)
                 gTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGG‑AGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGCGATGTcca                                                                                                                       >  1:6857/1‑147 (MQ=255)
                    gTACATTAACCAAGGTCGGACGTTAAGCCCGACGG‑AGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAAc                                                                                                                    <  2:575732/149‑1 (MQ=255)
                       cATTAACCAAAGCCGGACGTTAAGCCCGACGG‑AGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTgg                                                                                                                 <  2:141654/149‑1 (MQ=255)
                        aTTAACCAAAGCCGGACGTTAAGCCCGACGG‑AGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTggg                                                                                                                <  1:519710/149‑1 (MQ=255)
                        aTTAACCAAACCCGGACGTTAAGCCCGACGG‑AGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGAAATATCAAAACGATCCGTGAGCAAACATGTAATGTGATGTCGCAACTggg                                                                                                                >  1:813356/1‑149 (MQ=255)
                         ttcaCCAAAGCCGGACGTTAAGCCCGACGG‑AGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGc                                                                                                               <  2:344572/146‑1 (MQ=255)
                           aaCCAAAGCCGGACGTTAAGCCCGACGG‑AGAGAGCAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCgg                                                                                                             >  2:659031/1‑148 (MQ=255)
                                aaGCCGGACGTTAAGCCCGACGG‑AGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGc                                                                                                               >  1:413585/1‑142 (MQ=255)
                                aaGCCGGACGTTAAGCCCGACGG‑AGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGc                                                                                                               <  2:413585/142‑1 (MQ=255)
                                            aaGCCCGACGG‑AGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTAACGCCggac                                                                                            >  2:165662/1‑147 (MQ=255)
                                             agacagACGG‑AGAGAGAAATATTGCGATTTATGTCGCGTGGCTACTCAATGACACAACTTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCACGgtt                                                                                           <  1:790924/144‑1 (MQ=255)
                                                 cGACGG‑AGAGAGAAAGATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGttgttg                                                                                       <  1:735201/149‑1 (MQ=255)
                                                 cGACGG‑AGAGAAAAATATTCCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGttgttg                                                                                       <  2:54136/149‑1 (MQ=255)
                                                 agACGG‑CGAGAGAAATCTTGTGTCTTATGTGGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATTAAAACGCTCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGttgttg                                                                                       <  2:290668/148‑1 (MQ=255)
                                                     gg‑AGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATAACAAAACGATCCGTGAACATAAATTTACTCTGAAGTCGAAACTGGGCGTCAGTTCTCACGCCGGGtcgttgacgc                                                                                   >  2:320152/1‑145 (MQ=255)
                                                      g‑agagagaAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGc                                                                                  >  1:594486/1‑149 (MQ=255)
                                                            agaAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCCGGGTTGTTGGAGGCCGCAg                                                                             >  2:732259/1‑149 (MQ=255)
                                                                 tatTGCGTTTTATATCGCGTGAGTACACAATGCCACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACTTAAATTTAATGTGATGTCGAAACTGGGCGTCACTTCTGACGCAGGGTTGTTGGAGGCCGCAGATAtt                                                                        <  1:253816/149‑1 (MQ=255)
                                                                   ttgccatttATGTCGCGTGGCTCTTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATACATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGTCGCAGGGTTGTTGGAGGCCGCAGATATTCt                                                                      <  2:255695/143‑1 (MQ=255)
                                                                   ttGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCt                                                                      <  1:74930/149‑1 (MQ=255)
                                                                    tGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTg                                                                     <  2:40581/149‑1 (MQ=255)
                                                                      cgcTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGtt                                                                   >  2:695918/1‑149 (MQ=255)
                                                                        cTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTtat                                                                 <  1:409268/149‑1 (MQ=255)
                                                                         tttATGTCGCGTGGCTACTCAATGACACAACTTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTtatg                                                                >  1:508613/1‑149 (MQ=255)
                                                                            aTGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTtatgtat                                                             <  1:355633/149‑1 (MQ=255)
                                                                               tCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTCAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGGTGTTGGAGGCCGCAGATATTCTGTtatgtcagcg                                                          >  1:235065/1‑144 (MQ=255)
                                                                                 gcgTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATAtt                                                                        >  2:313241/1‑133 (MQ=255)
                                                                                 gcgTGGCTACTCAAAGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATAtt                                                                        <  1:313241/133‑1 (MQ=255)
                                                                                     ggCTACTCAATGAAACAAATTGCCGAGCAGCTTAAACTCAATACCAAAACGAGCCGTGAACATACATTTAATGTGATGTCGAAACTGGCCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTg                                                    <  2:618327/149‑1 (MQ=255)
                                                                                         aCTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGaa                                                >  1:222998/1‑149 (MQ=255)
                                                                                           tCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAAc                                              >  1:723389/1‑149 (MQ=255)
                                                                                                   acaAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAAtg                                      >  1:777087/1‑149 (MQ=255)
                                                                                                    caAATTGCCGAGCAGCTTAAACGAAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAAtgt                                     <  1:392147/149‑1 (MQ=255)
                                                                                                      acttGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATgtgt                                   <  1:790706/147‑1 (MQ=255)
                                                                                                                        aCGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCg                 >  2:439585/1‑149 (MQ=255)
                                                                                                                         cGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTg                                                    <  1:794970/113‑1 (MQ=255)
                                                                                                                         cGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTg                                                    >  2:794970/1‑113 (MQ=255)
                                                                                                                                tCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCGTTGCGAAACAAGGAATGTGTTGCATCCCTTTTAATCCGCATGATGc         >  2:416312/1‑149 (MQ=255)
                                                                                                                                   aaaCGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCgc      >  2:796829/1‑148 (MQ=255)
                                                                                                                                       gATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGTAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGttt  >  1:550545/1‑149 (MQ=255)
                                                                                                                                               |                                                                                                                                            
GACCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGG‑AGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTTT  >  NC_000913_3_hsa_tpiA/4604556‑4604838

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑